Association of HTR2A (rs6313) gene polymorphism with autism spectrum disorder in Jordanian children: a case-control study

Vollständiger Abstract

Worum geht es in dieser Arbeit?

Abstract Objectives Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with a significant genetic component, often linked to disruptions in the serotonergic system. The HTR2A gene, specifically the rs6313 (102T>C) polymorphism, is a primary candidate for investigating ASD susceptibility. The aim of this study is to investigate the association of rs6313 polymorphism with susceptibility to ASD in the Jordanian population. Methods In this case-control study, 99 Jordanian children with ASD and 109 neurotypical controls were genotyped using PCR-RFLP. Genotype and allele frequencies were analyzed under multiple genetic models. Results No statistically significant differences were found between cases and controls regarding genotype (p=0.54) or allele frequencies (p=0.3284). The distribution adhered to Hardy-Weinberg equilibrium in both groups. Conclusions Our findings suggest no significant association between the HTR2A rs6313 and ASD susceptibility in the Jordanian population. These results emphasize the need for larger, multi-marker studies to account for regional genetic diversity.